Occurrence of cyclopia, myelomeningocele, deafness, and abducens paralysis in siblings.
As holoprosencephaly without chromosome defect may be associated with other CNS-related anomalies such as mental retardation, mental illness, facial paralysis, endocrine disorders, deafness, spina bifida, and myelomeningocele, we present a family in which one girl had a myelomeningocele, a brother had orbital hypotelorism, facial and cerebral asymmetries, cerebral palsy, abducens paralysis, and inner ear deafness. A 3rd pregnancy was terminated at 16 weeks; the fetus had cyclopia. A common cause is discussed in these cases and in those families in which holoprosencephaly and additional malformations occur among different generations.
D000010:Abducens Nerve / Q000002:abnormalities; D000015:Abnormalities, Multiple / Q000235:genetics*; D002648:Child; D003638:Deafness / Q000235:genetics*; D004027:Diencephalon / Q000002:abnormalities; D005124:Eye Abnormalities; D005260:Female; D005313:Fetal Death / Q000209:etiology; D006801:Humans; D006972:Hypertelorism / Q000235:genetics; D007231:Infant, Newborn; D008591:Meningomyelocele / Q000235:genetics*; D009436:Neural Tube Defects / Q000235:genetics*; D011247:Pregnancy; D013687:Telencephalon / Q000002:abnormalities